• Corpus ID: 2340288

Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.

@article{Weston1996MyosinVM,
  title={Myosin VIIA mutation screening in 189 Usher syndrome type 1 patients.},
  author={Michael D. Weston and Philip M. Kelley and L. D. Overbeck and Mariette Wagenaar and Dana J. Orten and Tama Hasson and Z Y Chen and David P. Corey and Mark S. Mooseker and Janos Sumegi and Cor W.R.J. Cremers and C Moller and Samuel G. Jacobson and Michael B. Gorin and William J. Kimberling},
  journal={American journal of human genetics},
  year={1996},
  volume={59 5},
  pages={
          1074-83
        }
}
Usher syndrome type 1b (USH1B) is an autosomal recessive disorder characterized by congenital profound hearing loss, vestibular abnormalities, and retinitis pigmentosa. The disorder has recently been shown to be caused by mutations in the myosin VIIa gene (MYO7A) located on 11q14. In the current study, a panel of 189 genetically independent Usher I cases were screened for the presence of mutations in the N-terminal coding portion of the motor domain of MYO7A by heteroduplex analysis of 14 exons… 

Figures and Tables from this paper

Mutation profile of the MYO7A gene in Spanish patients with Usher syndrome type I

There is an absence of hot spot mutations in the MYO7A gene and that this gene plays a major role in Usher syndrome, according to results of mutation screening in a series of 48 unrelated USH1 families.

Twelve novel myosin VIIA mutations in 34 patients with Usher syndrome type I: Confirmation of genetic heterogeneity

A total of 12 novel and unique mutations were identified in 34 unrelated Usher type I patients by single‐strand conformation polymorphism analysis and direct sequencing, all single base changes.

Evaluation of the myosin VIIA gene and visual function in patients with Usher syndrome type I.

Cosegregation analysis of mutations in five available families showed that the MYO7A changes segregated with the disease in an autosomal recessive fashion, and average visual function as measured by visual acuity, visual field area, and ERG amplitude was not significantly different.

Impacts of Usher syndrome type IB mutations on human myosin VIIa motor function.

The results suggest that the mutations responsible for USH1B cause the complete loss of the actin-activated ATPase activity or the reduction of duty ratio of myosin VIIa.

Mutations in the myosin VIIA gene cause non-syndromic recessive deafness

The expression of MYO7A in the neuroepithelium suggests that it should be considered a candidate for non-syndromic deafness in the human population, and by screening families with non-Syndromal deafness from China, two families carrying Myo7A mutations are identified.

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Haplotypes were constructed in 28 USH1 families and myosin VIIA mutations were detected, verifying their classification as Usher syndrome type 1B, a group of autosomal recessive diseases characterized by profound congenital hearing loss, vestibular areflexia, and progressive visual loss due to retinitis pigmentosa.

The usher syndromes.

The ongoing studies of myosin-VIIa, the USH2A protein, and the yet to be identified proteins encoded by the other USH genes will advance understanding of the Usher syndromes and contribute to the development of effective therapies.

Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome

12 Spanish families affected by type-I Usher syndrome were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons.

Electroretinographic anomalies in mice with mutations in Myo7a, the gene involved in human Usher syndrome type 1B.

This is the first report of a physiological anomaly in a mouse model with a mutation in the same gene as involved in USH1B, and mutations in myosin VIIa in mice can lead to decreased ERG amplitudes while threshold remains normal.

The Usher Syndromes BRONYA

The ongoing studies of myosin-VIIa, the USH2A protein, and the yet to be identified proteins encoded by the other USH genes will advance understanding of the Usher syndromes and contribute to the development of effective therapies.
...

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